RGD:11597155 Rat Genome Database

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Variant: RGD:11597155 -  Homo sapiens

RGD ID: 11597155
RS ID: rs200944017
ClinVar ID: CV299358
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC4A4  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 72,205,035
GRCh38 4 71,339,318
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012653.1:g.157033T>A
NC_000004.12:g.71339318T>A
NC_000004.11:g.72205035T>A
NP_003750.1:p.Phe24Ile
More... 		01/13/2018 intron variant uncertain significance RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND IMPAIRED INTELLECTUAL DEVELOPMENT; RTA, PROXIMAL, AUTOSOMAL RECESSIVE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC4A4
Accession:NM_003759
Location:EXON
Amino Acid Prediction: F to I (nonsynonymous)
Amino Acid Position: 24
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSTENVEGKPSNLGERGRARSSTILRVVQPMFNHSIFTSAVSPAAERIRFILGEEDDSPAPPQLFTELDELLAVDGQEME
WKETARWIKFEEKVEQGGERWSKPHVATLSLHSLFELRTCMEKGSIMLDREASSLPQLVEMIVDHQIETGLLKPELKDKV
TYTLLRKHRHQTKKSNLRSLADIGKTVSSASRMFTNPDNGSPAMTHRNLTSSSLNDISDKPEKDQLKNKFMKKLPRDAEA
SNVLVGEVDFLDTPFIAFVRLQQAVMLGALTEVPVPTRFLFILLGPKGKAKSYHEIGRAIATLMSDEVFHDIAYKAKDRH
DLIAGIDEFLDEVIVLPPGEWDPAIRIEPPKSLPSSDKRKNMYSGGENVQMNGDTPHDGGHGGGGHGDCEELQRTGRFCG
GLIKDIKRKAPFFASDFYDALNIQALSAILFIYLATVTNAITFGGLLGDATDNMQGVLESFLGTAVSGAIFCLFAGQPLT
ILSSTGPVLVFERLLFNFSKDNNFDYLEFRLWIGLWSAFLCLILVATDASFLVQYFTRFTEEGFSSLISFIFIYDAFKKM
IKLADYYPINSNFKVGYNTLFSCTCVPPDPANISISNDTTLAPEYLPTMSSTDMYHNTTFDWAFLSKKECSKYGGNLVGN
NCNFVPDITLMSFILFLGTYTSSMALKKFKTSPYFPTTARKLISDFAIILSILIFCVIDALVGVDTPKLIVPSEFKPTSP
NRGWFVPPFGENPWWVCLAAAIPALLVTILIFMDQQITAVIVNRKEHKLKKGAGYHLDLFWVAILMVICSLMALPWYVAA
TVISIAHIDSLKMETETSAPGEQPKFLGVREQRVTGTLVFILTGLSVFMAPILKFIPMPVLYGVFLYMGVASLNGVQFMD
RLKLLLMPLKHQPDFIYLRHVPLRRVHLFTFLQVLCLALLWILKSTVAAIIFPVMILALVAVRKGMDYLFSQHDLSFLDD
VIPEKDKKKKEDEKKKKKKKGSLDSDNDDSDCPYSEKVPSIKIPMDIMEQQPFLSDSKPSDRERSPTFLERHTSC*

Gene Symbol:SLC4A4
Accession:XM_011532390
Location:INTRON

Gene Symbol:SLC4A4
Accession:XM_024454269
Location:INTRON

Gene Symbol:SLC4A4
Accession:NM_001098484
Location:INTRON

Gene Symbol:SLC4A4
Accession:XM_024454268
Location:INTRON

Gene Symbol:SLC4A4
Accession:XM_017008793
Location:INTRON

Gene Symbol:SLC4A4
Accession:XM_024454272
Location:INTRON

Gene Symbol:SLC4A4
Accession:XM_024454271
Location:INTRON

Gene Symbol:SLC4A4
Accession:XM_024454267
Location:INTRON

Gene Symbol:SLC4A4
Accession:XM_047416348
Location:INTRON

Gene Symbol:SLC4A4
Accession:NM_001134742
Location:INTRON

Gene Symbol:SLC4A4
Accession:XM_024454270
Location:INTRON

Gene Symbol:SLC4A4
Accession:XM_017008792
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000390889 CLINVAR
dbSNP (RS) rs200944017 CLINVAR
MedGen C1970309 CLINVAR
NCBI Gene LOC129992668 CLINVAR
  SLC4A4 CLINVAR
OMIM 603345 CLINVAR
  604278 CLINVAR